Aim: The aim of the study was the evaluation of clinical symptoms suggesting Epidermolysis bullosa dystrophica in a 5 years old boy and identification of an underlying molecular defect.
Material and methods: The patient was a 5 years old boy with the history of transient bullae and milla formation in the fi rst three years of life In the last two years such tendency has not been observed, with the exception of dystrophic toenails. The family history of bullous diseases is negative. Molecular analysis was performed using direct sequencing of COL7A1 gene encoding collagen type VII.
Results: A novel mutation p.Gly2064_Arg2069del was identified in the patient. The identified mutation does not appear in the patient's parents nor in the patient's brother. Molecular analysis in the family members revealed that the mutation occurred de novo. Biparental inheritance of genetic material for chosen genetic markers was confirmed.
Conclusions: On the basis of clinical features observed, results of molecular studies and literature data, diagnosis of mild dominant Epidermolysis bullosa dystrophica can be established in the index case.